L4M (p.Leu4Met) variant of ACAT1 (P24752)
L4M (p.Leu4Met) in ACAT1 (P24752) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L4M (p.Leu4Met) variant details
- p.Leu4Met
- ExAC rs774524997
- gnomAD rs774524997
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.19
- CADD 12.90
- PolyPhen-2 0.10
- SIFT 0.27
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available